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Title: | Genetic determinants of global developmental delay and intellectual disability in Ukrainian children |
Authors: | Куруца, Олексій Степанович Щубелка, Христина Михайлівна Олексик, Тарас Хомич Гасинець, Ярослава Степанівна Вакерич, Михайло Михайлович Мірутенко, Віолета Walter Wolfsberger Liudmyla Turova; Kelly Kalanquin; Krista Williston; Anastasiia Makovetska |
Keywords: | Global developmental delay, Intellectual disability, Next generation sequencing, Gene panel testing, Whole exome sequencing, Ukraine |
Issue Date: | 27-Mar-2024 |
Publisher: | Journal of Neurodevelopmental Disorders |
Citation: | Shchubelka, K., Turova, L., Wolfsberger, W. et al. Genetic determinants of global developmental delay and intellectual disability in Ukrainian children. J Neurodevelop Disord 16, 13 (2024). |
Abstract: | Background Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country’s healthy population. |
Description: | https://doi.org/10.1186/s11689-024-09528-x |
Type: | Text |
Publication type: | Стаття |
URI: | https://dspace.uzhnu.edu.ua/jspui/handle/lib/61353 |
ISSN: | 1866-1955 |
Appears in Collections: | Наукові публікації кафедри інформаційних управляючих систем та технологій |
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Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.pdf | 53.03 kB | Adobe PDF | View/Open |
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